Incomplete Wolfram syndrome. Clinical case report

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We describe clinical presentation of Wolfram syndrome and follow-up data in a child. Diagnostics of Wolfram syndrome takes time because clinical symptoms develop not at the time of disease manifestation, but usually several years later. The sequence of manifestations also varies. According to the literature, sensorineural hearing loss occurs in the 2nd decade, and bladder atony develops only by the 3rd decade. In the presented case, initial manifestations of bladder innervation disorders in the form of its dysfunction developed as early as the first year, and sensorineural hearing loss formed by the 4th year of the disease. As in other studies, the patient developed optic disc atrophy within the first year after diabetes onset. This clinical case confirms variability in the clinical symptoms of Wolfram syndrome. The sequence in which the disease picture develops (in this case, there was an incomplete form of syndrome — the absence of diabetes insipidus) does not always coincide with the classic course of syndrome, which complicates timely diagnosis.

Oleg A. Dianov

Children’s Clinical Hospital №2; Tver State Medical University

ORCID iD: 0000-0001-9321-4937
SPIN-code: 1115-4615

Russian Federation, 4, Rzhevskaya str., Tver, 170023; 4, Sovetskay street, Tver, 170000


Ekaterina A. Lavrova

Tver State Medical University

Author for correspondence.
ORCID iD: 0000-0001-9230-7955
SPIN-code: 9192-4589

Russian Federation, 4, Sovetskay street, Tver, 170000


Vadim V. Maltcev

Children’s Clinical Hospital №2

ORCID iD: 0000-0002-4302-0664

Russian Federation, 4, Rzhevskaya str., Tver, 170023


Darina A. Oleynik

Children’s Clinical Hospital №2

ORCID iD: 0000-0001-8767-0485

Russian Federation, 4, Rzhevskaya str., Tver, 170023


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Copyright (c) 2019 Dianov O.A., Lavrova E.A., Maltcev V.V., Oleynik D.A.

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